DIAGNOSIS AND LABIOSCHISIS MANAGEMENT

By NeoDie , 5 February, 2025

DIAGNOSIS AND LABIOSCHISIS MANAGEMENT

I Made Nudi Arthana

Labioschisis or cleft lip is a common congenital facial malformation of the head and neck region. 1-6 This abnormality is caused by the failure of the medial nasal process to fuse with the maxillary process during fetal development in the eighth week of embryology. 6-10

LITERATURE REVIEW

Anatomy


The lips consist of lip muscles covered by skin on the outside and mucosa on the inside part. Edge The lips or vermilion are lined by a red, non-keratinized epithelium rich in papillary tissue and rich in blood vessels. The junction of the vermilion and the skin is called the mucocutaneous ridge or white line. This line forms a junction with the skin and is depressed downward to form a smooth curve in the upper middle of the lip called the Cupid's bow . The lateral extension of the white line delimits the Cupid's bow . At the edge of the depressed middle of the white line the there is part small back skin or ridge extending upwards to the base of the columella covering the depressed skin area called the philtrum. There is a slight protrusion of vermilion below the Cupid's bow called a tubercle. This landmark will later be used as a marker in the reconstruction of the cleft lip on the upper lip. 6,7

Figure 1. Anatomy lips. 9

Figure 1. Anatomy lips. 9

Lips  is  sphincter  muscle  Which moved by  muscles​ orbicularis oris innervated by the seventh cranial motor nerve. 6 This sphincter functions to bring together pairs of mouth muscles. Components those muscles surround lips And link corner lips. These muscles lie between the skin and mucous membrane of the lips, where the superior part is limited by the nose and the inferior part is limited by the chin. 7

The main blood supply of the upper lip is provided by the pair of superior labial arteries which lie close to the mucous membrane in the muscles of the lips. The sensory innervation of the upper lip is served by the inferior orbital nerve. This nerve is a branch of the fifth cranial nerve. Its motor fibers are derived from the labial branches which are derived from the branches of the seventh cranial nerve. 1,7

Embryology

The formation of the upper lip involves a series of coordination in the frontonasal, maxillary and facial prominences in the mandible. In general, the development of lip formation occurs in the 4th week, the neural crest appears from the facial prominence. In the 5th week, growth occurs nasal process medial and lateral, And will join the maxillary process but is separated by a clear boundary. In the 6th - 7th week, the maxillary process will grow medially and press the medial nasal process towards the midline. These two protrusions will unite with the maxillary protrusion and form the lips. 13

At the end of the fourth week, the neural crest of the facial prominences begins to emerge from the first pair of pharyngeal arches. The maxillary prominences then located on its lateral side. Frontonasal prominence is a protrusion formed by ventral mesenchymal proliferation that develops toward the anterior brain, forming the superior border of the stomodeum. The lateral side of the frontonasal prominence is a thickening of the ectoderm surface that will later form nasal placodes . 1,13

In the fifth week of embryonic development, the nasal placodes will undergo invagination to form the nostrils . This invagination process will later form protrusions surrounding the nostrils called the lateral nasal prominences and medial nasal prominences. Two weeks later, the pair of maxillary prominences grow medially and are approximately the same size as the medial nasal prominences. Furthermore, the medial nasal prominences and medial maxillary prominences will merge, which will later form the upper lip. The medial nasal prominences will merge to form the philtrum, the medial upper lip, the nostrils and the columella. The maxillary prominences will form the lateral part of the upper lip. The lateral nasal prominences are not involved in the merger, but will later form the nose. 13

Epidemiology

Labioschisis can be found in 1 in 700 births in the world. 6 The incidence of labioschisis is found more in the Caucasian race than in the African race. Negro. 7 The incidence of labioschisis was found to vary, namely in the Indian race as many as 36, the Asian race as many as 21 and the white race as many as 10 out of 1000 births were found to have abnormalities in the form of labioschisis. 1 This abnormality can occur in a way unilateral And bilateral. Incident labioschis more 2 time occurs more in men than in women. 14,15

Classification

There are several types of labioschisis that are quite popular, namely unilateral labioschisis, bilateral labioschisis or median labioschisis (rare) and generally occur completely or to varying degrees. happen in a way incomplete (can seen on Picture 2 A, B And C

). 9

Picture 2. A. Labioschisis unilateral incomplete, B. Labioschisis complete unilateral, C. Complete bilateral labioschisis. 9

Picture 2. A. Labioschisis unilateral incomplete, B. Labioschisis complete unilateral, C. Complete bilateral labioschisis. 9

In complete unilateral labioschisis, abnormalities are found in the form of upper lip deformity, maxilla and nasal deformity on one side while complete bilateral labioschisis is found on both sides. Incomplete unilateral labioschisis is characterized by the presence of a degree of variation in the vertical cleft lip but the base of the nose and its components are still intact. Incomplete bilateral labioschisis is characterized by the presence of a nasal base structure that is close to normal, the premaxilla structure is in normal shape and the cleft is only found on both sides of the upper lip. 5

Etiology

The cause of labioschisis is multifactorial but the exact cause is not yet known. The formation of the lips occurs perfectly in the eighth week of the embryological period during pregnancy. The cause of this disorder can be influenced by several factors. Genetic factors are generally considered to be the cause of labioschisis, but environmental factors appear more frequently as causal factors in the population. 10

Various causes are associated with labioschisis abnormalities. Genetic factors and environmental factors that are teratogenic influence the occurrence of labioschisis. 5,11 Labioschisis abnormalities can be associated with certain malformations or syndromes known as syndromic disorders. If the disorder is not associated with  malformation  or  syndrome  certain  called  with  abnormality nonsyndromic. 6

Some of the evidence for the cause of facial abnormalities comes from a combination of epidemiological studies, experiments on laboratory animals and humans. and in vitro studies. A positive family history was found in 20% of patients with labioschisis in the population, which supports that genetic factors play an important role in causing labioschisis disorders. In a study in England, it was found that out of 100 pairs of sibling genomes examined, 9 pairs of genomes suffered from labioschisis, abnormalities were found on chromosome 1p36 which experienced deletions and increased the risk of labioschisis and contained genes such as P73 and MTHFR or methylenetetrahydrofolate which are candidates for the occurrence of labioschisis. 2

Environmental factors that influence the occurrence of labioschisis are smoking, consuming alcoholic beverages and a history of taking anticonvulsant drugs during pregnancy. Smoking during pregnancy can increase the birth of babies with labioschisis by two times. A history of taking anticonvulsant drugs such as phenytoin during pregnancy can increase the number of babies with labioschisis by ten times. Several other teratogenic agents such as alcohol, other anticonvulsant drugs have also been reported to be associated with the incidence of births with labioschisis. 5,11

Pathophysiology

The middle part of the upper lip is formed by the growth of the nasomedian process inferomedially and anteriorly. This process then forms the middle part of the upper lip which consists of the philtrum, labial tubercles, central alveolar ridge consisting of paired central and lateral incisors, anterior nasal septum and anterior part of palatal triangle. Paired lateral maxillary processes grow medially  follow  process  nasomedian.  Process This  later  will become component lateral lips above. 7

The maxillary processes will meet to form the primary palate, septum and will join from anterior to posterior to form the secondary palate. The formation of the lips and palate will take place perfectly in the eighth week of the embryonic life process and the formation of the soft palate and uvula takes place in the 12th week of the process. embryonic. Failure of the structure in the union on one or both sides will cause a defect in the form of a cleft lip, which can extend to the nose and alveolus between the lateral incisor and the canine teeth. 6,7 In unilateral labioschisis, the orbicularis muscles attach to the base of the columella and the base of the ala nasi. In bilateral labioschisis, the orbicularis oris muscles will attach to the base of the ala nasi without any muscles which connects the middle part of the prolabium. 11

There are several theories that are considered to be the cause of labioschizophrenia, these theories include: 1) Fusion theory, where there is... failure of fusion between the maxillary and medial processes, 2) The theory of developmental inhibition, in this theory it is said that there is a failure of mesodermal migration across the gap, and 3) The mesoderm theory, in this theory it is said that There is no mesoderm in embryo formation. 11

Diagnosis

Diagnosis of neonatal labioschisis can be established by a thorough history and physical examination. Common complaints such as aesthetic complaints include speech and language disorders, breastfeeding or eating disorders and facial growth disorders. On inspection physique head and neck can found gap or cleft lip, facial asymmetry, and asymmetrical nose shape. 1,2

Children who are born with labioschis are a problem for their parents which can cause reactions in the form of mental unpreparedness for accept condition the And tend emotion Which later can be followed by feelings of depression and guilt. This is what first prompted the patient's family to take their child to a health service. 1,5,16

Picture 3. Labioschisis complete unilateral . 9

Picture 3. Labioschisis complete unilateral . 9

To diagnose complete unilateral labioschisis, complaints of a cleft lip on one side of the upper lip since birth are obtained. Inspection during physical examination can show a defect in the upper lip, the base of the nose is directly connected to the oral cavity, the maxilla is... hypoplastic on the side cleft, the lateral part of the nasal cartilage is lower on the cleft side, the nasal columella is shifted to the normal side, as well as rice base on the cleft side there is a deformity (can be seen in Figure 3 ). 5,16 If complete bilateral labioschisis occurs, the defect will be found on both sides. and the middle part of the upper lip does not have lip muscles or the vermilion of the lip (can be seen in Figure 4 ). 5

Picture 4. Labioschisis complete bilateral . 9

Picture 4. Labioschisis complete bilateral . 9

Incomplete unilateral labioschisis on physical examination, a gap/cleft can be seen on one of the upper lips vertically, but the base of the nose is still intact. Labioschisis bilateral incomplete on physical examination found a basic nasal structure that was close to normal, the premaxillary structure was in normal shape and the cleft was only found on both sides of the upper lip (can be seen in Figure 5 ). 5,7

Some clefts in the orofacial area can also be diagnosed prenatally using ultrasound examination. Ultrasonography or USG is the main imaging tool in the prenatal period, this examination can show the current condition, is easy to do and is relatively inexpensive. Conventional two-dimensional US can depict midfacial structures such as the nose and lips. 12 Ultrasound examination in prenatal can be done after 16-20 weeks of pregnancy. Ultrasonography with high resolution high such as USG 3D or 4D USG allows to detect various fetal facial anomalies that cannot be done using 2D USG. With 3D or 4D USG can describe the complete structure of the fetal head and the development of facial bones so that it allows early detection of the possibility of cleft lip. MRI can be performed at 29-30 weeks of pregnancy if USG examination is difficult to perform. 12,13
 Picture 6. Inspection USG on time pregnancy Which shows bilateral labioschisis. 12

Picture 6. Inspection USG on time pregnancy Which shows bilateral labioschisis. 12

Management

This labioschisis treatment is carried out to form perfect lips. according to anatomy normal which involves various disciplines​ such as plastic surgery, pediatrics, nutrition and reconstructive facial experts as a team. This is because it can cause quite complex problems for children and their parents. 1-5,11 The main priority in treating patients with labioschisis is providing adequate food and nutrition. The surgical approach in the form of lip reconstruction or known as labioplasty is carried out to improve the aesthetics of the lips and nose, cleft palate closure, speech normalization, improving chewing function, and dental health, as well as normal psychosocial development. 17,18 The basic principles that need to be understood in performing cleft lip surgery are, creating symmetry in the cupid bow, building full tubercles and high vermilion, building a philtrum column with the same shape and height as the philtrum column on the non-cleft side, creating a scar -free columella and forming a symmetrical columella-labial junction, repairing orbicularis oris muscle, creating an adequate labial sulcus, correcting the alar nasal deformity and closing the wound effectively. atraumatic. 19 The types of operations that can be performed include lip reattachment and cleft lip reconstruction. 1,16 There are several labioplasty techniques including technique flap triangularis, quadringularis flap technique , Rose – Thompson technique, modified Mohler technique , and Millard technique . Millard technique is more commonly used because it is based on the rotating technique. and advance the incised network. 1,5,9,11,16

  1. Technique Millard

The Millard technique is also called the rotation advancement technique . This technique was developed in 1955, by developing the concept of lateral flap advancement on the upper lip combined with rotation of the medial segment. This technique preserves both the cupid bow and philtrum dimple with the advantage of placing the gap closure below the alar base. 21,22

Picture 7. Dot, dot, dot imaginary on Millard technique . 23

Picture 7. Dot, dot, dot imaginary on Millard technique . 23

Landmark Which used on technique This, among them :

  • Point 1, is base alarm rice on the non- gap side.

  • Point 2, cupid's high point bow on the non- slit side.

  • Point 3, point middle cupid bow .

  • Point 4, the high point of the cupid's bow on the slit side, is determined by measuring the distance between points 2 and 3.

  • Point 5, the apex of the cupid's bow on the lateral segment of the cleft, is usually located where the white roll (vermilion cutaneous junction ) is located. starting to thin out.

  • Point 6, superior extent of the advancement flap , distance point 5 and 6 should be the same height as the lip on the non-slit side.

  • Point 7, along the alar crease, so that the distance between points 5 and 7 is the same as the distance between points 1 and 2.

  • Point 8, the superior extent of the rotation incision , is extended to point 9 if necessary, and does not have to cross the philtral column. side non gap.

  • Point 9, the extent of the incision (if necessary), may be necessary to achieve adequate downward rotation of the medial lip segment. 23

  •  

  1. Technical Tennison Randall

The Tennison Randall procedure, also known as the triangular flap, is known for its geometric design. requires precise pre-operative measurements. This operation is performed strictly on mathematical principles, measurement and art. 22

Picture 8. Dot, dot, dot imaginary on technique Tennison Randall.24

Picture 8. Dot, dot, dot imaginary on technique Tennison Randall.24​

Landmark on technique Tennison Randal is as following :

  • Point 1 is a point middle cupid's bow in vermilion border.

  • Point 2 is cupid bow peak in side non- gap.

  • Point 3 is peak cupid's bow on the side gap so that the length is 1-2 The same with long 1-3 (Point 3 relate with point 13).

  • Point 4 The medial lip element is pushed towards the cleft, straighten the columella in the midline.

  • Point 5 is a point on the vermilion border of the element medial to the base of the columella Point 4 is a point on the base of the columella that corresponds to the opposite nostril. Point 6 is a point on the floor of the nostril of the lateral element with the same relation to the cleft side of the alar base as point 4 on the non-cleft side of the alar base.

  • Track 5-3 withdrawn line.

  • Point  7  generally  found  on  line  middle philtral

     so that corner 5-3-7 around corner right.

  • Line 3-7 drawn.

  • Point 8 is located on the vermilion border from lateral elements at the point where the mucocutaneous ridge become thinned. The distance from point 8 to the ipsilateral oral commissure is the same as the distance from point 2 to the non-cleft side of the oral commissure.

  • Point 10 is about the midpoint of 7-13, and point 11 is about the midpoint of 9-12.

  • Location point 9 And 12 varies in accordance with size gap and the number of networks available.

  • Point 9 was chosen first on an experimental basis and adjusted so that the following relationship This is true :

    • Long 6-9 made The same with long 5- 13.

    • Length 4-2 minus 5-10 equals length 8-11, the distance at the base of the flap or the amount required to engage the cupid bow into the normal position.

    • Long 8-12 The same long 9- 12. 24

  1. Technique Rose - Thompson

The Rose-Thompson ( straight-line ) technique involves the use of an oblique incision at the opposite cleft margin. The lateral cleft segment is then mobilized to join the medial segment creating a philtral column in which the scar lies. 26

Complications

Surgical complications that can arise after surgery are surgical wound infections, Whistle deformity and lip asymmetry . Surgical wound infections are quite rare complications because the face has a fairly large blood supply. Surgical wound infections can occur consequence contamination post operation, trauma Which not intentional from active children where the sensation in their lips may be reduced post-surgery and local inflammation may occur due to the knots. submerged. Whistle deformity is a vermilion deficiency and may be associated with retraction along the lip correction line. This can be avoided by total use of the lateral segment of the orbicularis muscle. Postoperative lip thickness abnormalities or asymmetry can be avoided. with precise intraoperative measurements.3,5,11

Prognosis

The prognosis for patients with labioschisis is generally good after cleft lip reconstruction. Patients can return to having normal lip shape and function. 1,2,5

 

Prevention

Some efforts that can be done to prevent the occurrence of labioschisis are changing the lifestyle and diet of mothers during pregnancy. These changes include: 1) avoiding smoking because it has a high risk factor for labioschisis. With the increase in women who smoke during pregnancy, it can increase the risk of babies being born with labioschisis, 2) avoiding consumption of alcoholic beverages, if women drink alcoholic beverages Alcohol during pregnancy can affect the growth and development of the embryo which can later increase the risk of giving birth to a baby with labioschisis. 3) providing adequate nutrition during pregnancy, especially The first trimester of pregnancy is very important for the growth of the craniofacial organs of the fetus, and 4) avoiding marriage with a partner whose family members have abnormalities in the form of a cleft lip/cleft palate. 2,12

DISCUSSION

Labioschisis can be found 1 in 700 births in the world. 6 This disorder can occur unilaterally and bilaterally. As many as 86% of cases are found bilaterally and the rest unilateral. In some cases, it is reported to occur more in males than in females. 1.5 Research by Loho 15 found that the prevalence of labioschisis at Prof. Dr. RD Kandou General Hospital was 57% of cases, where it was more often found to appear unilaterally and bilaterally in 5% of cases. As many as 58% of cases were reported to be male. 15 Jaruratanarisikul et al. reported that 23.2% of cases were found in children with labioschisis at the southern Thailand cleft lip treatment center, where 88% appeared unilaterally and the rest appeared bilaterally. 16 Dreise et al. reported that 31.2% of cases were found in children with labioschisis in Uganda with a male to female ratio of 1.1:1. 27

Various causes are associated with labioschisis abnormalities. Genetic factors and environmental factors that are teratogenic influence the occurrence of labioschisis. 5,11 Several genetic studies have been conducted on diseases with facial malformation abnormalities and genetic markers to determine are genes These genes are separated together or individually. The study of genetic separation involved 1 - 40 families, where it was suspected that there was a gene responsible for the formation of cleft lip on chromosomes 4, 6, 17 and 19 but the results were different from the results of studies obtained in Denmark, 28 Italy 29 and England 30 which consistently found mutations in the 6p gene as the cause of cleft lip formation. 2 In a study in England, it was found that out of 100 pairs of sibling genomes examined, 9 pairs of genomes suffered from labioschisis abnormalities were found on chromosome 1p36 which experienced deletions and increased the risk of labioschisis and contained genes like P73 And MTHFR ( methylenetetrahydrofolate ) Which is candidates for the occurrence of labioschisis. 2 Jaruratanarisikul et al., reported that in 17.7% of cases, one of the parents of the labioschisis sufferer had a cleft lip disorder. 19

Factor environment Which influential on incident labioschis including smoking during pregnancy, consuming alcoholic beverages and exposure to anticonvulsant drugs such as phenytoin. 5,11 Mossey et al., said the proportion of cleft lip incidence in mothers who smoked during pregnancy in the population is estimated to reach 22%. 31 Hopper et al., reported a tenfold increase in the incidence of cleft lip in mothers who consumed phenytoin and alcohol during pregnancy. 5

The occurrence of labioschisis can be diagnosed during pregnancy using an ultrasound examination. Ultrasound examination can show the condition at that time, is easy to do and is relatively inexpensive. This examination can show the presence of a cleft lip in a fetus that is more than 16 weeks old during pregnancy. 12 Cockell and Jones recommend an ultrasound examination during pregnancy to be able to detect early baby with abnormality labioschisis.32,33​ Inspection This is a recommended examination for pregnant women. 13 Robinson stated that labioschisis or cleft lip abnormalities can be detected by USG examination at 18 weeks of pregnancy. 34 Hanikeri et al reported that most labioschisis or cleft lip abnormalities can be detected by USG examination at 15-19 weeks of gestation. 35

Various disciplines such as plastic surgery, pediatrics, nutrition and reconstructive facial experts are involved in the treatment of patients with labioschisis. 1-5,11 The main priority in the treatment of patients with labioschisis is the provision of adequate food and nutrition. If labioschisis occurs completely, there will be significant difficulty in drinking compared to using the help of a special drinking bottle. 1,3,5,16 Matter This proven with study Which done by Masarei et al., where there is difficulty breastfeeding baby born with cleft lip is significantly different from babies born without cleft lip. 36

Approach operation in the form of reconstruction lips or known With labioplasty,            it can                     be done                   to          repair the                     lip        organs         and repair them aesthetics face. As for type operation Which can carried out includes adhesion lips And reconstruction lips chippy or cleft lip. 1.16 Eichhorn et al., reported that the average cleft lip occurred in infants age 2.1 months since start plastering is done on babies with cleft lip aged 2-3 days. 37 As many as 32% of the total number of cleft lip sufferers in the Eichhorn et al study, had perfect lip attachment without gap after done installation plaster on gap lips. 38 Zayed et al., reported 50 cases consisting of 41 cases of unilateral labioschisis. incomplete And 9 case labioschis unilateral complete cleft lip reconstruction performed using the Millard rotation technique providing satisfactory results 6-18 months after surgery. 39 Similar research was conducted by Adeyemo et al., which obtained satisfactory results in 15 bilateral labioschisis patients consisting of 13 patients with bilateral labioschisis. bilateral complete And 2 patient labioschis bilateral incomplete after cleft lip reconstruction using the Millard rotation technique. 40 Wrong One complications surgery Which can caused post operation that is infection wound post operation. Nagy And Mommaerts reported a total of 302 patients with unilateral or bilateral labioschisis who had done reconstruction gap lips, as much as 2% experience infection

post operations and can be handled with giving antibiotics intraoral. 41

CONCLUSION

Labioschisis or cleft lip is a congenital facial malformation. Which common in the head and neck area. This abnormality is caused by the failure of the medial nasal process to fuse with the maxillary process during fetal development in the eighth week of embryology.

Diagnosis of labioschisis can be established by anamnesis, physical examination, and supporting examinations. Supporting examinations in the form of USG or MRI can be performed during pregnancy to detect labioschisis in children early.

Treatment for labioschisis involves surgery to form perfect lips according to normal anatomy. involving various disciplines such as plastic surgery, pediatrics, nutrition and reconstructive facial experts as a team. This is because it causes quite complex problems for children with labioschisis and their parents.

The prognosis for patients with labioschisis is generally good after cleft lip reconstruction. Patients can return to having normal lip shape and function.

Efforts that can be made to prevent the occurrence of labioschis include avoiding or not smoking during pregnancy, avoiding or not consuming alcoholic beverages, adequate nutrition during pregnancy, especially in the first trimester of pregnancy, and avoiding marriage with a partner whose family members have abnormalities in the form of a cleft lip/cleft palate.

 

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